Open Access Articles- Top Results for DYNC1H1


SymbolsDYNC1H1 ; DHC1; DHC1a; DNCH1; DNCL; DNECL; DYHC; Dnchc1; HL-3; SMALED1; p22
External IDsOMIM600112 MGI103147 HomoloGene1053 GeneCards: DYNC1H1 Gene
RNA expression pattern
File:PBB GE DYNC1H1 211928 at tn.png
File:PBB GE DYNC1H1 gnf1h10152 at tn.png
More reference expression data
RefSeq (mRNA)NM_001376NM_030238
RefSeq (protein)NP_001367NP_084514
Location (UCSC)Chr 14:
102.43 – 102.52 Mb
Chr 12:
110.6 – 110.67 Mb
PubMed search[1][2]

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.[1][2][3]


DYNC1H1 has been shown to interact with PAFAH1B1[4] and CDC5L.[5]

Clinical relevance

Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease[6] as well as spinal muscular atrophy with lower extremity predominance (SMA-LED).[7]


  1. Pfister KK, Fisher EM, Gibbons IR, Hays TS, Holzbaur EL, McIntosh JR, Porter ME, Schroer TA, Vaughan KT, Witman GB, King SM, Vallee RB (November 2005). "Cytoplasmic dynein nomenclature". J Cell Biol 171 (3): 411–3. PMC 2171247. PMID 16260502. doi:10.1083/jcb.200508078. 
  2. Vaisberg EA, Grissom PM, McIntosh JR (August 1996). "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles". J Cell Biol 133 (4): 831–42. PMC 2120833. PMID 8666668. doi:10.1083/jcb.133.4.831. 
  3. "Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1". 
  4. Tai, Chin-Yin; Dujardin Denis L; Faulkner Nicole E; Vallee Richard B (March 2002). "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function". J. Cell Biol. (United States) 156 (6): 959–68. ISSN 0021-9525. PMC 2173479. PMID 11889140. doi:10.1083/jcb.200109046. 
  5. Ajuh, P; Kuster B; Panov K; Zomerdijk J C; Mann M; Lamond A I (December 2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". EMBO J. (ENGLAND) 19 (23): 6569–81. ISSN 0261-4189. PMC 305846. PMID 11101529. doi:10.1093/emboj/19.23.6569. 
  6. Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S (August 2011). "Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease". Am. J. Hum. Genet. 89 (2): 308–12. PMC 3155164. PMID 21820100. doi:10.1016/j.ajhg.2011.07.002. 
  7. Harms M B, Ori-McKenney K M, Scoto M, Tuck E P, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly M M, Miller L J, Jani-Acsadi A, Pestronk A, Shy M E, Muntoni F, Vallee R B, Baloh R H (2012). "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology 78 (16). PMID 22459677. doi:10.1212/WNL.0b013e3182556c05.  edit

Further reading


Lua error in package.lua at line 80: module 'Module:Buffer' not found.